2021
Revisiting the genome-wide significance threshold for common variant GWAS
Chen Z, Boehnke M, Wen X, Mukherjee B. Revisiting the genome-wide significance threshold for common variant GWAS. G3: Genes, Genomes, Genetics 2021, 11: jkaa056. PMID: 33585870, PMCID: PMC8022962, DOI: 10.1093/g3journal/jkaa056.Peer-Reviewed Original ResearchConceptsGenome-wide significance thresholdP-value thresholdGWAS meta-analysesMeta-analysis consortiumExcessive false positive ratesSignificance thresholdGene set enrichmentBenjamini-Yekutieli procedureModest-sized studiesFDR-controlling proceduresGlobal lipidsMeta-analysesPathway analysisGWASReplication studyP-valueIncreased discoveryMultiple testing strategiesSample sizePositive discoveriesBenjamini-HochbergLipid levelsTesting strategiesDownstream workFDR
2015
Comparative genome-wide association studies of a depressive symptom phenotype in a repeated measures setting by race/ethnicity in the multi-ethnic study of atherosclerosis
Ware E, Mukherjee B, Sun Y, Diez-Roux A, Kardia S, Smith J. Comparative genome-wide association studies of a depressive symptom phenotype in a repeated measures setting by race/ethnicity in the multi-ethnic study of atherosclerosis. BMC Genomic Data 2015, 16: 118. PMID: 26459564, PMCID: PMC4603946, DOI: 10.1186/s12863-015-0274-0.Peer-Reviewed Original ResearchConceptsMulti-Ethnic StudyGenome-wide association studiesStudies of depressive symptomsMulti-Ethnic Study of AtherosclerosisDepressive symptomsStudy of AtherosclerosisGenome-wide suggestive levelMeasures analysisSingle-nucleotide polymorphismsMultiple ethnicitiesBaseline measurementsMeta-analysisEuropean AmericansLongitudinal measurementsGenome-wide analysisLongitudinal frameworkSuggestive levelAssociation studiesMethodsThis studyEthnicityGenetic predictorsP-valueMood disordersHealthNovel variants
2012
Investigating parent of origin effects (POE) and anticipation in Irish Lynch Syndrome kindreds.
Farrell M, Hughes D, Schmid J, Boonstra P, Mukherjee B, Walshe M, Mac Mathuna P, Gallagher D. Investigating parent of origin effects (POE) and anticipation in Irish Lynch Syndrome kindreds. Journal Of Clinical Oncology 2012, 30: e12031-e12031. DOI: 10.1200/jco.2012.30.15_suppl.e12031.Peer-Reviewed Original ResearchAffected parent-child pairsParent-of-origin effectsParent-child pairsInvestigate parent-of-origin effectsLynch syndrome familiesGermline MMR mutationsLynch syndrome kindredT-testMMR mutationsPaired t-testRisk of diseaseSyndrome familiesInvestigate parentGenetic anticipationParental ageP-valueGroup comparisonsDisease allelesOffspring ageAgeDynamic mutationSeverity of diseaseKindredIncreasing severityFamily